“I’m a Mutant without any super power.” That’s the little anecdote I often say to lighten the mood when talking about my medical condition. Until early 2011, I had lived my entire life with a general diagnosis, determined by symptoms and assumptions.
Limb-Girdle Muscular Dystrophy.
I hit milestones as a baby; I was an early walker. All seemed normal until I came closer to my second birthday. I wasn’t able to climb stairs. We were blessed by my mom’s friend, whose son had Duchenne Muscular Dystrophy, that noticed signs in my physical ability. This was the beginning of my life with a rare disease. (Her son passed away a few years ago. One of many friends who have gone because of Muscular Dystrophy).
Medicine is always advancing. Treatments, technology, models of care. But even now, diagnosis is still mostly a matter of luck when it comes to rare conditions. You must find the right doctor who has an idea of what your symptoms mean. Most medical professionals are great at providing treatment… It’s figuring out what you have that is difficult.
What helps the most is genetic testing. A positive, definitive result becomes the finish line.
T528K mutation, Lamin A/C location.
LMNA EDMD-2: Emery-Dreifuss Muscular Dystrophy.
Muscle weakness. Contractures. Heart complications. Lipodystrophy.
No super powers.
After 25 years, I had an official, confirmed diagnosis. No treatment, no cure. Nothing has really changed in the prognosis. However, I knew. I had an answer, not a guess. To me, this was happy news.
Responding with such enthusiasm certainly confused my new neurologist. He told me that he never had a patient be happy to receive such a diagnosis. But you see, I’ve already accepted this life. I’ve already learned to adapt. Only now, I know why. And knowing why was the finish line to the search. I was tired of searching.
A clear genetic result still doesn’t come with a set road map. My future is still uncertain. I don’t know how long until I’m dependent on a wheelchair. I don’t know what my cardiac condition will be down the road. At least I know that if properly managed, I should enjoy a long life.
Instead, I have diagnosis coupled with the wonderful world of social media. This has allowed me to join a community of people around the world with a diagnosis of Emery-Dreifuss Muscular Dystrophy. Most, if not all, of the sub types of EDMD are represented. And even with the same sub type, current abilities and conditions vary. General expectations can be made, specifics are left to be individualized.
Within that community, we join together to share experiences, suggestions, frustrations, hope, medical information. Just like most rare disease communities, these people are strong. They are hopeful, resilient, and determined. We overcome what so many would never imagine.
Perhaps we do have super powers after all.